Canonical Allele Identifier: CA599064538

Gene: DDB2

Linked Data

• dbSNP Id: rs1181773099
• gnomAD v2: 11-47256989-CAGA-C
• gnomAD v3: 11-47235438-CAGA-C
• gnomAD v4: 11-47235438-CAGA-C
• MyVariant Identifiers: chr11:g.47256990_47256992del (hg19) ; chr11:g.47235439_47235441del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47235441_47235443del , CM000673.2:g.47235441_47235443del	GRCh38
NC_000011.9:g.47256992_47256994del , CM000673.1:g.47256992_47256994del	GRCh37
NC_000011.8:g.47213568_47213570del	NCBI36
NG_009365.1:g.25500_25502del , LRG_467:g.25500_25502del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256996.9:c.1023+29_1023+31del MANE Select	ENSP00000256996.4:n.1023+29_1023+31del
ENST00000256996.8:c.1023+29_1023+31del	ENSP00000256996.3:n.1023+29_1023+31del
ENST00000378600.7:c.457-2396_457-2394del	ENSP00000367863.3:n.457-2396_457-2394del
ENST00000378601.7:c.*110+29_*110+31del	ENSP00000367864.3:n.*110+29_*110+31del
ENST00000378603.7:c.831+29_831+31del	ENSP00000367866.3:n.831+29_831+31del
ENST00000612309.4:n.2472+29_2472+31del
ENST00000614394.1:n.442_444del
ENST00000616278.4:c.699+29_699+31del	ENSP00000478411.1:n.699+29_699+31del
ENST00000617022.4:n.1554-2396_1554-2394del
ENST00000617847.4:c.952+29_952+31del
ENST00000620515.1:n.189+29_189+31del
NM_000107.2:c.1023+29_1023+31del , LRG_467t1:c.1023+29_1023+31del	NP_000098.1:n.1023+29_1023+31del
NM_001300734.1:c.457-2396_457-2394del	NP_001287663.1:n.457-2396_457-2394del
XR_242780.3:n.1013+29_1013+31del
XR_242780.4:n.1013+29_1013+31del
NM_000107.3:c.1023+29_1023+31del MANE Select	NP_000098.1:n.1023+29_1023+31del
NM_001300734.2:c.457-2396_457-2394del	NP_001287663.1:n.457-2396_457-2394del
NM_001399874.1:c.1023+29_1023+31del	NP_001386803.1:n.1023+29_1023+31del
NM_001399875.1:c.1023+29_1023+31del	NP_001386804.1:n.1023+29_1023+31del
NM_001399876.1:c.457-2396_457-2394del	NP_001386805.1:n.457-2396_457-2394del
NM_001399878.1:c.831+29_831+31del	NP_001386807.1:n.831+29_831+31del
NR_174610.1:n.1274+29_1274+31del
NR_174611.1:n.1252+29_1252+31del